International Journal of Neonatal Screening

11 pages, 661 KiB

Open AccessArticle

A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age

by Ulf Wike Ljungblad, Morten Lindberg, Erik A. Eklund, Ingjerd Sæves, Carlos Sagredo, Anne-Lise Bjørke-Monsen and Trine Tangeraas

Int. J. Neonatal Screen. 2022, 8(4), 66; https://doi.org/10.3390/ijns8040066 - 14 Dec 2022

Cited by 3 | Viewed by 1824

Abstract

Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether [...] Read more.

Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether being born in a hospital using nitrous oxide (N₂O) as pain relief in labor may have had an impact on total homocysteine at NBS. Methods: We retrospectively retrieved NBS data and analyzed total homocysteine, methylmalonic acid and methyl citrate on stored NBS dried blood spots (DBS) of 70 infants diagnosed with symptomatic B12 deficiency and compared them to 646 matched and 434 unmatched DBS controls to evaluate the Austrian and Heidelberg B12 NBS algorithms. Results: The sensitivity of NBS in detecting infants later diagnosed with symptomatic B12 deficiency at median age 10.9 weeks was ≤10%. Total homocysteine was higher in DBS for the unmatched controls who were born in hospitals providing N₂O compared to in hospitals not providing N₂O, with median total homocysteine 4.0 µmol/L compared to 3.5 µmol/L (n = 434, 95% CI 0.04–0.87, p = 0.03). Conclusion: NBS algorithms were unable to identify most infants diagnosed with symptomatic B12 deficiency after the neonatal period. Being born in hospitals providing N₂O may impact total homocysteine at NBS. Full article

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10 pages, 237 KiB

Open AccessArticle

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey

by Cheryl K. Glovsky, Kendall Carroll, Naomi Clark, Peter Colleran, Vanessa Colleran, Shayne Gaffney, Margaret Kenna, Evelyn Kuhns-Rankin, Tracy Evans Luiselli, Talia Mango, Barbara Morris, Charlotte Mullen, Matthew Stenerson, Laura Gibson and Michael S. Cohen

Int. J. Neonatal Screen. 2022, 8(4), 65; https://doi.org/10.3390/ijns8040065 - 13 Dec 2022

Cited by 1 | Viewed by 2289

Abstract

This study sought to assess the current state of screening for congenital cytomegalovirus infection in newborns among birth hospitals and newborn nurseries in the state of Massachusetts. A survey assessing hospital protocols for cytomegalovirus testing in newborns was distributed to all birth hospitals [...] Read more.

This study sought to assess the current state of screening for congenital cytomegalovirus infection in newborns among birth hospitals and newborn nurseries in the state of Massachusetts. A survey assessing hospital protocols for cytomegalovirus testing in newborns was distributed to all birth hospitals and newborn nurseries in Massachusetts from November 2020 to February 2021. 73.3% of hospitals responded to at least one survey question. Of these, fewer than half (48.5%) had any established approach for neonatal cytomegalovirus screening. Salivary polymerase chain reaction was the most common testing modality. Most hospitals did not perform confirmatory testing for positive test results. Most respondents (87.9%) did not know or did not answer how results of cCMV screening were reported to families and who was responsible for coordinating care for cCMV-infected infants. We conclude that congenital cytomegalovirus screening protocols are absent or incomplete in most Massachusetts birth hospitals and newborn nurseries. A cohesive strategy involving standardized education and screening guidelines is needed to reduce the incidence and burden of congenital cytomegalovirus disease on children and their families. Full article

(This article belongs to the Special Issue Newborn Screening for Congenital CMV)

7 pages, 439 KiB

Open AccessArticle

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

by Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai and Koon Yu Yuet

Int. J. Neonatal Screen. 2022, 8(4), 64; https://doi.org/10.3390/ijns8040064 - 01 Dec 2022

Viewed by 1801

Abstract

In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients. Modifications to the assay parameters of the Roche/Hitachi Cobas [...] Read more.

In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients. Modifications to the assay parameters of the Roche/Hitachi Cobas c systems immunoturbidimetric assay are adjusted to lower the limit of quantitation to 0.60 mg/L from 30 mg/L. This enables sensitive measurement of ceruloplasmin in eluent after DBS extraction. In addition, reference intervals and receiver operating characteristic curve analysis for diagnostic cut-off were established using DBS of neonates and WD adult patients. After DBS whole blood calibration, the 95th percentile of the reference interval for newborns was 86–229 mg/L. The cut-off value of 54 mg/L was found to be the most optimal point for differentiating true adult WD from newborn controls. This test shows a high area under curve of 1.000 with 100% sensitivity and specificity in differentiating normal newborns from WD adult samples. However, the results should be further validated with true newborn WD patient samples together with the consideration of other factors that can also lead to low ceruloplasmin levels. This test shows application potential in newborn screening for WD, which can save lives through early identification and timely treatment. Full article

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15 pages, 594 KiB

Open AccessArticle

Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis

by Olivia M. Y. Ngan, Wing Ki Wong, Janice Ching Tam and Chi Kong Li

Int. J. Neonatal Screen. 2022, 8(4), 63; https://doi.org/10.3390/ijns8040063 - 30 Nov 2022

Viewed by 2009

Abstract

Parents increasingly utilise the internet to obtain information on health practices, but the quality of online information about screening for inherited metabolic diseases (IMD) needs to be improved. A content analysis examined how IMD blood and urine tests were described online in local [...] Read more.

Parents increasingly utilise the internet to obtain information on health practices, but the quality of online information about screening for inherited metabolic diseases (IMD) needs to be improved. A content analysis examined how IMD blood and urine tests were described online in local healthcare sectors between May and June 2021. Among the nine resources, four were blood test providers and five were urine test providers. All mentioned the test benefits and procedures. Other information, such as false-positive/negative or risk of pain, was infrequently mentioned. The descriptions of urine tests are advertised as outperforming blood tests and can be purchased from commercial laboratory sites without medical guidance. Two urine test providers claimed no false results were reported. A few commercial advertisements highlighted the simplicity of the urine test and potentially overstated the invasiveness of the blood test. We found that some advertisements described IMD as “silent killers” and emphasised the advantage of getting “reassurance” in controlling the child’s developmental health and well-being. To better protect the parents, or broadly, the public interest, regulatory and oversight measures on the urine tests should be implemented to promote the proper use of genetic tests. Without timely regulation and oversight, the incorrect descriptions might create a public misconception about utilising these commercial laboratory tests to inform health decisions. Full article

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15 pages, 288 KiB

Open AccessReview

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list

Int. J. Neonatal Screen. 2022, 8(4), 62; https://doi.org/10.3390/ijns8040062 - 28 Nov 2022

Cited by 11 | Viewed by 4404

Abstract

Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) [...] Read more.

Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time. Full article

(This article belongs to the Special Issue Tandem Mass Spectrometry in Newborn Screening)

13 pages, 1097 KiB

Open AccessReview

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

by Kabir Jalal, Randy L. Carter, Amy Barczykowski, Shunji Tomatsu and Thomas J. Langan

Int. J. Neonatal Screen. 2022, 8(4), 61; https://doi.org/10.3390/ijns8040061 - 15 Nov 2022

Cited by 5 | Viewed by 2254

Abstract

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP) suggests [...] Read more.

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) as an initial test, with psychosine (PSY) activity increasingly used as a confirmatory test for predicting onset of Krabbe disease, though with an excessive false positive rate. PD is marked by a deficiency in acid α-glucosidase (GAA), causing increased glycogen, creatine (CRE), and other biomarkers. Bivariate normal limit (BVNL) methods have been applied to GaLC and PSY activity to produce a NBS tool for KD, and more recently, to IDUA and GAG activity to develop a NBS tool for MPS I. A BVNL tool based on GAA and CRE is in development for infantile PD diagnosis. Early infantile KD, MPS I, and PD cases were pre-symptomatically identified by BVNL-based NBS tools. This article reviews these developments, discusses how they address screening deficiencies identified by the RUSP and may improve NBS more generally. Full article

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13 pages, 938 KiB

Open AccessArticle

Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities

by Kate L. Wilson, Kimi Shah and Megan H. Pesch

Int. J. Neonatal Screen. 2022, 8(4), 60; https://doi.org/10.3390/ijns8040060 - 14 Nov 2022

Cited by 4 | Viewed by 1837

Abstract

Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and treatment. In North America, newborn cCMV screening programs have not been widely implemented, leaving healthcare providers to rely on clinical suspicion alone to prompt testing. This [...] Read more.

Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and treatment. In North America, newborn cCMV screening programs have not been widely implemented, leaving healthcare providers to rely on clinical suspicion alone to prompt testing. This study sought to examine healthcare providers’ cCMV testing practices at a quaternary children’s hospital. A retrospective review of the electronic health record was completed for eligible infants over a six-year period. Bivariate calculations and analyses were performed. Between 2014 and 2019, a total of 40,091 infants were cared for at the study institution, of which 178 were tested for cCMV and 10 infants were diagnosed with cCMV. Isolated small-for-gestational age was the most common indication (53/178) to prompt testing. Overall, the cCMV testing rate was 4.5 tests per 1000 infants, with a resulting diagnostic prevalence of 0.2 cases per 1000 infants, which is 15-fold lower than the expected prevalence. Providers relying on clinical suspicion alone are infrequently testing infants for cCMV, resulting in missed diagnoses and missed opportunities for treatment. Systematic cCMV screening practices may improve diagnosis, treatment, and childhood outcomes. Full article

(This article belongs to the Special Issue Newborn Screening for Congenital CMV)

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12 pages, 922 KiB

Open AccessArticle

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders

by Natalie A. Boychuk, Niamh S. Mulrooney, Nicole R. Kelly, Aaron J. Goldenberg, Ellen J. Silver and Melissa P. Wasserstein

Int. J. Neonatal Screen. 2022, 8(4), 59; https://doi.org/10.3390/ijns8040059 - 10 Nov 2022

Cited by 4 | Viewed by 2145

Abstract

The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range [...] Read more.

The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range of NBS/diagnostic experiences, with a particular focus on lysosomal storage disorders (LSDs) and X-linked adrenoleukodystrophy (X-ALD) as representative disorders with complex presentations. An online cross-sectional survey with six domains was completed in 2019 by a volunteer sample of parents with at least one child born between 2013 and 2018. Parents were classified in the analysis stage into four groups based on their child’s rare disorder and means of diagnosis. Stress and depression were estimated using dichotomous measures of the depression subscale of the Hospital Anxiety and Depression Scale and the Parental Stress Scale. Logistic regression models were estimated for the relationship between the parent group and stress/depression, controlling for demographic variables (region of the US, income, education, major life events, relationship to the child, number of children, parent age, and race/ethnicity). One hundred seventy-four parents were included in this analysis. Parents of children with an LSD or X-ALD diagnosis clinically may have higher odds of depression (OR: 6.06, 95% CI: 1.64–24.96) compared to parents of children with the same disorders identified through NBS, controlling for covariates. Although a similar pattern was observed for parental stress (OR: 2.85, 95% CI: 0.82–10.37), this did not reach statistical significance. Ethically expanding NBS and genome sequencing require an understanding of the impacts of early detection for complex disorders on families. These initial findings are reassuring, and may have implications as NBS expands. Given our small sample size, it is difficult to generalize these findings to all families. These preliminary trends warrant further investigation in larger and more diverse populations. Full article

(This article belongs to the Special Issue Psychosocial Burden of Positive Newborn Screening)

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18 pages, 1377 KiB

Open AccessArticle

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

by Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards and Bradford L. Therrell Show full author list Hide full author list

Int. J. Neonatal Screen. 2022, 8(4), 58; https://doi.org/10.3390/ijns8040058 - 27 Oct 2022

Cited by 9 | Viewed by 3219

Abstract

Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. [...] Read more.

Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis. Rates of missed CF cases and odds ratios were derived for each factor in CFFNs, and two CFFN subgroups, IRT above (“high”) and below (“low”) the CFFN median (39 ng/mL) compared to CFTPs for this entire sample set. Factors associated with “high” CFFN subgroup were Black race, higher IRT cutoff, fixed IRT cutoff, genotypes without two known CF-causing variants, and meconium ileus. Factors associated with “low” CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum ≥ 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce “high” IRT CFFNs. Addressing hospital and laboratory factors (like training staff in collection of blood spots, using insulated containers during transport and reducing consecutive days screening laboratories are closed) may reduce “low” IRT CFFNs. Full article

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6 pages, 464 KiB

Open AccessArticle

Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy

by Preet K. Matharu, Patrice K. Held and David B. Allen

Int. J. Neonatal Screen. 2022, 8(4), 57; https://doi.org/10.3390/ijns8040057 - 25 Oct 2022

Cited by 1 | Viewed by 1443

Abstract

To improve the positive predictive value (PPV) of newborn screening for 21-hydroxylase deficiency (21OHD), co-variates have been used to modify 17-hydroxyprogesterone (17OHP) cutoffs. The objective of this study is to evaluate whether 17OHP screening cutoffs adjusted for both collection time (CT) and birth [...] Read more.

To improve the positive predictive value (PPV) of newborn screening for 21-hydroxylase deficiency (21OHD), co-variates have been used to modify 17-hydroxyprogesterone (17OHP) cutoffs. The objective of this study is to evaluate whether 17OHP screening cutoffs adjusted for both collection time (CT) and birth weight (BW) improved the sensitivity and PPV of 21OHD screening. Unaffected newborn screening samples were stratified based on BW and CT to establish 17OHP concentration cutoffs at the 95th and 99th percentile. These cutoffs were applied to a cohort of confirmed cases of 21OHD to determine the sensitivity and PPV of the modified screening parameters. 17OHP cutoffs at the 99th percentile, adjusted for BW and CT, had a sensitivity of 96.3% and a specificity of 98.9%, but a relatively low PPV (0.130) for the identification of 21OHD and did not detect all cases. Use of the 95th percentile further increased sensitivity to 98.1% but resulted in a notably lower PPV (0.027). Alternative approaches that do not rely exclusively on 17OHP are needed to improve newborn screening accuracy for 21OHD. Full article

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11 pages, 902 KiB

Open AccessArticle

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand

by Mark R. de Hora, Natasha L. Heather, Dianne R. Webster, Benjamin B. Albert and Paul L. Hofman

Int. J. Neonatal Screen. 2022, 8(4), 56; https://doi.org/10.3390/ijns8040056 - 21 Oct 2022

Cited by 3 | Viewed by 1695

Abstract

Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detected in newborns and 10 were not detected by screening. Currently, for every case of CAH detected by screening, 10 false-positive tests are encountered. Second-tier [...] Read more.

Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detected in newborns and 10 were not detected by screening. Currently, for every case of CAH detected by screening, 10 false-positive tests are encountered. Second-tier liquid chromatography-tandem mass spectrometry (LCMSMS) has the potential to improve screening sensitivity and specificity. A new laboratory protocol for newborn screening for CAH was evaluated. Birthweight-adjusted thresholds for first- and second-tier 17-hydroxyprogesterone, second-tier 21-deoxycortisol and a steroid ratio were applied to 4 years of newborn screening data. The study was enriched with 35 newborn screening specimens from confirmed CAH cases. Newborn screening was conducted on 232,542 babies, and 11 cases of classical CAH were detected between 2018 and 2021. There were 98 false-positive tests (specificity 99.96%, PPV = 10.1%) using the existing protocol. Applying the new protocol, the same 11 cases were detected, and there were 13 false-positive tests (sensitivity > 99.99%, PPV = 45.8%, (X² test p < 0.0001). Incorporating the retrospective specimens, screening sensitivity for classical CAH was 78% (existing protocol), compared to 87% for the new protocol (X² test p = 0.1338). Implementation of LCMSMS as a second-tier test will improve newborn screening for classical CAH in New Zealand. Full article

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3 pages, 196 KiB

Open AccessEditorial

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

by David S. Millington and Can Ficicioglu

Int. J. Neonatal Screen. 2022, 8(4), 55; https://doi.org/10.3390/ijns8040055 - 11 Oct 2022

Cited by 3 | Viewed by 1450

Abstract

It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (MPS-II, Hunter Syndrome) to the [...] Read more.

It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (MPS-II, Hunter Syndrome) to the recommended uniform screening panel (RUSP) in the United States [...] Full article

14 pages, 2143 KiB

Open AccessArticle

Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input

by Michael H. Farrell, Katherine E. Mooney, Anita Laxova and Philip M. Farrell

Int. J. Neonatal Screen. 2022, 8(4), 54; https://doi.org/10.3390/ijns8040054 - 27 Sep 2022

Cited by 2 | Viewed by 1640

Abstract

Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental findings of newborn screening for cystic fibrosis (CF), including heterozygote carrier status and the conditions known as CFTR-related metabolic syndrome (CRMS) and/or cystic fibrosis [...] Read more.

Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental findings of newborn screening for cystic fibrosis (CF), including heterozygote carrier status and the conditions known as CFTR-related metabolic syndrome (CRMS) and/or cystic fibrosis screen positive inconclusive diagnosis, CFSPID. The participants were parents of infants up to 6 months old recruited from maternity hospitals/clinics, parent education classes and stores selling baby products. Data were collected using an anonymous, one-time Internet-based survey. The survey introduced two scenarios using novel, animated videos. Parents were asked to rank three potential disclosure policies—Fully Informed, Parents Decide, and Withholding Information. Regarding disclosure of information about Mild X (analogous to CRMS/CFSPID), 57% of respondents ranked Parents Decide as their top choice, while another 41% ranked the Fully Informed policy first. Similarly, when considering disclosure of information about Disease X (CF) carrier status, 50% and 43% gave top rankings to the Fully Informed and Parents Decide policies, respectively. Less than 8% ranked the Withholding Information policy first in either scenario. Data from value comparisons suggested that parents believed knowing everything was very important even if they became distressed. Likewise, parents preferred autonomy even if they became distressed. However, when there might not be enough time to learn everything, parents showed a slight preference for deferring decision-making. Because most parents strongly preferred the policies of full disclosure or making the decision, rather than the withholding option for NBS results, these results can inform disclosure policies in NBS programs, especially as next-generation sequencing increases incidental findings. Full article

(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)

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30 pages, 556 KiB

Open AccessReview

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee

Int. J. Neonatal Screen. 2022, 8(4), 53; https://doi.org/10.3390/ijns8040053 - 27 Sep 2022

Cited by 17 | Viewed by 3055

Abstract

Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 [...] Read more.

Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 through 2020 regarding psychosocial issues associated with NBS. Results describe parents’ knowledge of and attitudes towards NBS, reactions to and understanding of positive NBS results, experiences of communication with health providers, decisions about carrier testing, and future pregnancies. Findings also explain the impact of positive NBS results on parent–child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. In conclusion, psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations. Future investigations should be more inclusive of culturally and socioeconomically diverse families and conducted in low-resource countries. Providing these countries with adequate resources to develop NBS programs is an essential step towards achieving international health equity. Full article

(This article belongs to the Special Issue Psychosocial Burden of Positive Newborn Screening)

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8 pages, 253 KiB

Open AccessArticle

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

by Kentaro Okamoto, Hisahide Nishio, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Yoichi Kondo, Kentaro Kawamura, Yukihiko Konishi, Chiho Tokorodani, Ritsuo Nishiuchi and Mariko Eguchi

Int. J. Neonatal Screen. 2022, 8(4), 52; https://doi.org/10.3390/ijns8040052 - 26 Sep 2022

Cited by 1 | Viewed by 2699

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvement of motor function and prevention of respiratory insufficiency of infants [...] Read more.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvement of motor function and prevention of respiratory insufficiency of infants with SMA. Nusinersen was introduced in Japan in 2017 and onasemnogene abeparvovec in 2020. We hypothesized that the introduction of these drugs might influence the incidence of SMA (more precisely, increase the diagnosis rate of SMA) in Japan. To test this hypothesis, we conducted a second epidemiological study of infantile SMA using questionnaires in Shikoku, Japan between October 2021 and February 2022. The incidence of infantile SMA during the period 2016–2020 was 7.08 (95% confidence interval [CI] 2.45–11.71) per 100,000 live births. According to our previous epidemiological study, the incidence of infantile SMA during 2011–2015 was 2.70 (95% CI 0.05–5.35) per 100,000 live births. The increased incidence of infantile SMA suggests that the widespread news in Japan regarding the introduction of therapeutic agents, nusinersen and onasemnogene abeparvovec, raised clinicians’ awareness about SMA, leading to increased and earlier diagnosis of SMA in Shikoku. Full article

(This article belongs to the Collection Newborn Screening in Japan)

9 pages, 215 KiB

Open AccessCommentary

Newborn Screening Is on a Collision Course with Public Health Ethics

by Robert J. Currier

Int. J. Neonatal Screen. 2022, 8(4), 51; https://doi.org/10.3390/ijns8040051 - 26 Sep 2022

Cited by 10 | Viewed by 2740

Abstract

Newborn screening was established over 50 years ago to identify cases of disorders that were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner. In the last decade, conditions have been added to newborn screening that do not strictly meet these [...] Read more.

Newborn screening was established over 50 years ago to identify cases of disorders that were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner. In the last decade, conditions have been added to newborn screening that do not strictly meet these criteria, and genomic newborn screening is beginning to be discussed. Some of these new and proposed additions to newborn screening entail serious public health ethical issues that need to be explored. Full article

(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)

15 pages, 899 KiB

Open AccessArticle

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

by Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong and Amy M. Brower

Int. J. Neonatal Screen. 2022, 8(4), 50; https://doi.org/10.3390/ijns8040050 - 22 Sep 2022

Cited by 7 | Viewed by 3202

Abstract

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, [...] Read more.

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network’s data tools played a key role in describing the NBS pilot findings and engaging stakeholders. Full article

(This article belongs to the Special Issue Newborn Screening for Duchenne Muscular Dystrophy)

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Int. J. Neonatal Screen., Volume 8, Issue 4 (December 2022) – 17 articles

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